title: [Congenital hypopituitarism: report of 23 cases].
abstract: BACKGROUND
  Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of this condition is important to prevent impairment of cognitive function, poor growth and alterations in metabolic profile in these patients.
  
  
  OBJECTIVE
  To report 23 patients diagnosed with congenital hypopituitarism.
  
  
  METHODS
  Retrospective review of clinical records of 23 patients (12 males) with congenital hypopituitarism, diagnosed during a 21 years period. In a group of 16 patients a molecular study was performed searching for mutations in HESX1, PROP-1 or POUF-1.
  
  
  RESULTS
  Short stature was the most frequent sign at the first evaluation, followed by neonatal hypoglycemia and presence of nystagmus, strabismus, atrophic optic nerve or malformations in the middle line showed in CNS imaging, suggesting septo-optic-dysplasia. All male patients diagnosed during neonatal period, exhibited micropenis. CNS images showed isolated hypophyseal hypoplasia or associated to an ectopic neurohypophysis in most patients. No patient in the subgroup subjected to molecular analysis had any of the mutations in the searched genes.
  
  
  CONCLUSIONS
  The diagnosis of hypopituitarism must be based on clinical grounds, especially when hypoglycemia, prolonged jaundice, micropenis or midline alterations are found in the neonatal period.
authors.affiliation: Instituto de Investigaciones Materno Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Juan Javier
authors.initials: JJ
authors.lastname: Lammoglia
authors.forename: Francisca
authors.initials: F
authors.lastname: Eyzaguirre
authors.forename: Nancy
authors.initials: N
authors.lastname: Unanue
authors.forename: Rossana
authors.initials: R
authors.lastname: Román
authors.forename: Ethel
authors.initials: E
authors.lastname: Codner
authors.forename: Fernando
authors.initials: F
authors.lastname: Cassorla
authors.forename: Verónica
authors.initials: V
authors.lastname: Mericq
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D050817:Transcription Factor Pit-1 / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C489736:HESX1 protein, human; D018398:Homeodomain Proteins; C494187:POU1F1 protein, human; D050817:Transcription Factor Pit-1; D014157:Transcription Factors